Variant report

Variant	rs12169368
Chromosome Location	chr22:30712876-30712877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:
2	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9620975	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
3	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:30702800-30714800	Enhancers	Spleen	Spleen
7	chr22:30705000-30720400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:30706000-30713400	Enhancers	Liver	Liver
9	chr22:30706000-30719400	Genic enhancers	Dnd41	blood
10	chr22:30706200-30720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:30706400-30713000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:30706400-30715400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr22:30706400-30716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:30706600-30714200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:30706600-30720400	Genic enhancers	Fetal Thymus	thymus
16	chr22:30707000-30714400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr22:30707000-30715400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:30707000-30715800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:30707400-30715000	Enhancers	Adipose Nuclei	Adipose
20	chr22:30707400-30720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:30707800-30720400	Weak transcription	Fetal Lung	lung
22	chr22:30707800-30720800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:30708200-30713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:30708400-30716800	Weak transcription	Psoas Muscle	Psoas
25	chr22:30708600-30715000	Weak transcription	Fetal Heart	heart
26	chr22:30708800-30715400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:30708800-30716200	Weak transcription	HSMMtube	muscle
28	chr22:30709000-30717600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:30709200-30714400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:30709200-30715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:30709200-30717400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:30709400-30713800	Weak transcription	Gastric	stomach
33	chr22:30709400-30714800	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:30709400-30715200	Genic enhancers	Primary T cells from cord blood	blood
35	chr22:30709600-30720600	Strong transcription	Fetal Stomach	stomach
36	chr22:30710000-30717400	Weak transcription	Brain Anterior Caudate	brain
37	chr22:30710200-30713200	Enhancers	Lung	lung
38	chr22:30710200-30715000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr22:30710200-30716400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30710200-30719800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr22:30710400-30715600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr22:30710400-30716200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr22:30710400-30720800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:30710400-30720800	Weak transcription	Fetal Kidney	kidney
45	chr22:30710600-30720400	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:30710800-30714400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:30710800-30714400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:30710800-30718000	Enhancers	Ovary	ovary
49	chr22:30710800-30718400	Strong transcription	Fetal Intestine Small	intestine
50	chr22:30711000-30713000	Genic enhancers	Thymus	Thymus

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